ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys)

dbSNP: rs387906675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022727 SCV004293130 uncertain significance Thrombophilia due to protein S deficiency, autosomal recessive 2023-07-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PROS1 protein function. ClinVar contains an entry for this variant (Variation ID: 29849). This missense change has been observed in individual(s) with clinical features of protein S deficiency (PMID: 20484936, 22261441). This variant is present in population databases (rs387906675, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 234 of the PROS1 protein (p.Tyr234Cys).
OMIM RCV000022727 SCV000044016 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2010-01-01 no assertion criteria provided literature only

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